Variant report

Variant	rs6998044
Chromosome Location	chr8:90771810-90771811
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:90768781-90771950	MCF10A-Er-Src	breast:	n/a	n/a
2	ELK1	chr8:90771543-90771925	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr8:90771295-90771984	SK-N-SH	brain:	n/a	n/a
4	MAFK	chr8:90771386-90772091	Hela-S3	cervix:	n/a	n/a
5	NFYA	chr8:90771585-90771830	Hela-S3	cervix:	n/a	chr8:90771657-90771670 chr8:90771658-90771668 chr8:90771659-90771671
6	MAX	chr8:90771345-90771944	SK-N-SH	brain:	n/a	chr8:90771478-90771485
7	GATA3	chr8:90771474-90772389	MCF-7	breast:	n/a	chr8:90772298-90772307
8	ZMIZ1	chr8:90771249-90771905	K562	blood:	n/a	n/a
9	JUND	chr8:90771219-90772433	K562	blood:	n/a	chr8:90771657-90771666 chr8:90772350-90772361
10	JUN	chr8:90771040-90772820	K562	blood:	n/a	chr8:90771657-90771666 chr8:90772350-90772361
11	CEBPB	chr8:90771360-90771943	IMR90	lung:	n/a	n/a
12	FOS	chr8:90771386-90771839	MCF10A-Er-Src	breast:	n/a	chr8:90771657-90771666
13	NFYA	chr8:90771371-90772097	K562	blood:	n/a	chr8:90771657-90771670 chr8:90771658-90771668 chr8:90771659-90771671
14	POLR2A	chr8:90771227-90771850	U87	brain:	n/a	n/a
15	RCOR1	chr8:90771171-90772444	K562	blood:	n/a	n/a
16	NFYB	chr8:90771357-90771842	GM12878	blood:	n/a	chr8:90771657-90771670 chr8:90771658-90771668 chr8:90771657-90771672 chr8:90771659-90771671
17	GTF2F1	chr8:90771340-90772117	Hela-S3	cervix:	n/a	n/a
18	TEAD4	chr8:90771161-90771960	K562	blood:	n/a	n/a
19	CEBPB	chr8:90771296-90771918	MCF-7	breast:	n/a	n/a
20	ARID3A	chr8:90771385-90771852	HepG2	liver:	n/a	n/a
21	CEBPB	chr8:90771335-90771837	K562	blood:	n/a	n/a
22	BHLHE40	chr8:90771354-90772049	K562	blood:	n/a	n/a
23	CHD2	chr8:90771445-90771918	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr8:90771342-90771905	Hela-S3	cervix:	n/a	n/a
25	CCNT2	chr8:90771428-90771828	K562	blood:	n/a	n/a
26	RAD21	chr8:90771390-90771879	Hela-S3	cervix:	n/a	n/a
27	RCOR1	chr8:90771412-90772019	K562	blood:	n/a	n/a
28	CEBPB	chr8:90771320-90772038	K562	blood:	n/a	chr8:90771995-90772008
29	JUN	chr8:90771326-90771872	K562	blood:	n/a	chr8:90771657-90771666
30	GATA2	chr8:90771454-90772510	HUVEC	blood vessel:	n/a	chr8:90772298-90772307
31	POLR2A	chr8:90771333-90771888	HepG2	liver:	n/a	n/a
32	STAT3	chr8:90771684-90771870	MCF10A-Er-Src	breast:	n/a	chr8:90771695-90771703
33	JUN	chr8:90771458-90771823	K562	blood:	n/a	chr8:90771657-90771666
34	TEAD4	chr8:90771451-90772799	SK-N-SH	brain:	n/a	n/a
35	JUN	chr8:90771416-90771888	K562	blood:	n/a	chr8:90771657-90771666
36	ELK4	chr8:90771517-90771908	Hela-S3	cervix:	n/a	n/a
37	TBP	chr8:90771371-90772091	K562	blood:	n/a	n/a
38	POLR2A	chr8:90771197-90772572	IMR90	lung:	n/a	n/a
39	SIN3AK20	chr8:90769006-90772678	MCF-7	breast:	n/a	n/a
40	JUN	chr8:90771353-90771897	K562	blood:	n/a	chr8:90771657-90771666
41	FOS	chr8:90771313-90771832	MCF10A-Er-Src	breast:	n/a	chr8:90771657-90771666
42	WRNIP1	chr8:90771491-90771868	GM12878	blood:	n/a	n/a
43	GATA3	chr8:90771351-90772822	SK-N-SH	brain:	n/a	chr8:90772298-90772307
44	STAT3	chr8:90771267-90771832	MCF10A-Er-Src	breast:	n/a	chr8:90771695-90771703 chr8:90771451-90771462
45	NFIC	chr8:90771369-90772734	SK-N-SH	brain:	n/a	n/a
46	ATF1	chr8:90771400-90771928	K562	blood:	n/a	n/a
47	CEBPB	chr8:90771278-90771951	A549	lung:	n/a	n/a
48	GATA3	chr8:90771405-90771921	T-47D	breast:	n/a	n/a
49	MAFK	chr8:90771469-90772023	K562	blood:	n/a	n/a
50	POLR2A	chr8:90771343-90771829	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:90770120..90773332-chr8:90778069..90782721,6	K562	blood:
2	chr8:90766999..90771986-chr8:90912842..90916534,13	MCF-7	breast:
3	chr8:90767168..90772413-chr8:90911120..90917480,11	K562	blood:
4	chr8:90766360..90773428-chr8:90991217..91000142,22	MCF-7	breast:
5	chr8:90770153..90772840-chr8:91007393..91009503,2	K562	blood:
6	chr6:27099899..27102052-chr8:90770515..90773024,2	MCF-7	breast:
7	chr8:90731255..90734229-chr8:90770926..90773381,2	MCF-7	breast:
8	chr8:90734885..90744209-chr8:90767977..90774247,14	MCF-7	breast:
9	chr8:90770081..90772255-chr8:90988919..90991592,2	MCF-7	breast:
10	chr8:90767236..90773457-chr8:90912212..90919638,16	MCF-7	breast:
11	chr8:90736815..90743993-chr8:90765696..90773918,18	MCF-7	breast:
12	chr5:65440254..65441030-chr8:90771522..90772035,2	Hela-S3	cervix:
13	chr8:90770923..90772478-chr8:91013915..91015881,2	K562	blood:
14	chr8:90766719..90773256-chr8:90991979..90999179,19	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251136	TF binding region
ENSG00000104320	Chromatin interaction
ENSG00000251136	Chromatin interaction
ENSG00000153914	Chromatin interaction
ENSG00000164823	Chromatin interaction
ENSG00000253744	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000207359	Chromatin interaction
ENSG00000196787	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10504882	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10504883	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16900025	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs16900480	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16900484	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16900581	0.90[ASN][1000 genomes]
rs16900589	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16900592	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16900617	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16900677	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs16900711	0.90[ASN][1000 genomes]
rs2293807	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs383592	0.95[YRI][hapmap]
rs39499	0.87[YRI][hapmap]
rs40544	0.95[YRI][hapmap]
rs42490	0.95[YRI][hapmap]
rs431264	0.89[YRI][hapmap]
rs55697113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55702923	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55881928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55914077	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55945927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs56118532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56275901	0.97[ASN][1000 genomes]
rs56302550	1.00[ASN][1000 genomes]
rs56716125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56793332	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57701764	1.00[ASN][1000 genomes]
rs58330617	1.00[ASN][1000 genomes]
rs58972679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59312383	1.00[ASN][1000 genomes]
rs59581432	1.00[ASN][1000 genomes]
rs59678171	1.00[ASN][1000 genomes]
rs59924471	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs59941801	1.00[ASN][1000 genomes]
rs59988473	1.00[ASN][1000 genomes]
rs60183011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60327583	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs60651842	1.00[ASN][1000 genomes]
rs60691618	1.00[ASN][1000 genomes]
rs60772522	1.00[ASN][1000 genomes]
rs60959735	1.00[ASN][1000 genomes]
rs61017576	0.90[ASN][1000 genomes]
rs61044501	0.97[ASN][1000 genomes]
rs61258433	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61450435	1.00[ASN][1000 genomes]
rs61662505	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7010806	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73694459	0.97[ASN][1000 genomes]
rs73694461	0.97[ASN][1000 genomes]
rs73694462	0.97[ASN][1000 genomes]
rs73694463	0.95[ASN][1000 genomes]
rs73694485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73694486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73694487	0.90[ASN][1000 genomes]
rs73694488	0.90[ASN][1000 genomes]
rs73694490	0.90[ASN][1000 genomes]
rs73694492	0.90[ASN][1000 genomes]
rs73694493	0.90[ASN][1000 genomes]
rs73694496	0.85[ASN][1000 genomes]
rs7817339	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7829418	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7830914	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7839470	0.97[ASN][1000 genomes]
rs7839478	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9721216	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891180	chr8:90697810-90802491	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
3	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv891181	chr8:90737258-90819998	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90766200-90772400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:90768400-90772000	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr8:90768800-90772000	Active TSS	Aorta	Aorta
4	chr8:90768800-90772000	Active TSS	HSMMtube	muscle
5	chr8:90768800-90772400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:90769000-90772000	Active TSS	Fetal Muscle Trunk	muscle
7	chr8:90769000-90772000	Active TSS	Thymus	Thymus
8	chr8:90769000-90772400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:90769400-90772000	Active TSS	Lung	lung
10	chr8:90770400-90772000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:90770400-90772400	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr8:90770400-90772600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:90770600-90772600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:90770800-90772200	Enhancers	Fetal Brain Male	brain
15	chr8:90770800-90772400	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr8:90770800-90772400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:90770800-90773800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:90771000-90772000	Flanking Active TSS	NHEK	skin
19	chr8:90771000-90772200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr8:90771000-90772200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr8:90771000-90772200	Weak transcription	Fetal Brain Female	brain
22	chr8:90771000-90772400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr8:90771000-90772400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:90771000-90772400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr8:90771000-90772600	Enhancers	Primary B cells from peripheral blood	blood
26	chr8:90771000-90772800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:90771000-90773600	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr8:90771000-90774200	Weak transcription	Gastric	stomach
29	chr8:90771000-90797000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:90771200-90772000	Flanking Active TSS	Fetal Intestine Large	intestine
31	chr8:90771200-90772000	Flanking Active TSS	Fetal Lung	lung
32	chr8:90771200-90772000	Flanking Active TSS	Fetal Stomach	stomach
33	chr8:90771200-90772000	Flanking Active TSS	HUVEC	blood vessel
34	chr8:90771200-90772200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr8:90771200-90772200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr8:90771200-90772200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:90771200-90772200	Flanking Active TSS	Brain Angular Gyrus	brain
38	chr8:90771200-90772200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr8:90771200-90772200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr8:90771200-90772200	Flanking Active TSS	Rectal Smooth Muscle	rectum
41	chr8:90771200-90772400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:90771200-90772400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr8:90771200-90772400	Enhancers	Placenta Amnion	Placenta Amnion
44	chr8:90771200-90772600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:90771200-90772600	Flanking Active TSS	Hela-S3	cervix
46	chr8:90771200-90772600	Flanking Active TSS	NH-A	brain
47	chr8:90771400-90772000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr8:90771400-90772000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr8:90771400-90772000	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr8:90771400-90772000	Enhancers	Brain Germinal Matrix	brain

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